Wang Pandeng, Jiang Zhuo, Guo Jianji, Liu Tao, Liu Zhen, Wang Dongdong, Li Honglin
Department of Cardiothoracic Surgery, The First Affifiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Shanghai Yinji Technology Co., Ltd., Shanghai, China.
Front Pharmacol. 2024 Nov 1;15:1433894. doi: 10.3389/fphar.2024.1433894. eCollection 2024.
Lung cancer is a prevalent malignancy, with the rearrangement of the anaplastic lymphoma kinase (ALK) gene being responsible for a minority of cases of non-small cell lung cancer (NSCLC). NSCLC patients harboring ALK fusion proteins demonstrate sensitivity to ALK tyrosine kinase inhibitors (TKIs). In this report, we describe the case of a female patient with metastatic lung adenocarcinoma, identified through NGS to carry a rare inverted SQSTM1-ALK (S5, A20) fusion. The patient received ensartinib as first-line therapy, resulting in a partial response (PR). At the time of publication, the patient's condition remained favorable. We have, for the first time, identified the presence of SQSTM1-ALK fusion in pericardial effusion, with the favorable response to ensartinib validating the oncogenic potential of SQSTM1-ALK fusion. The substantial advancements and extensive utilization of NGS have facilitated the identification of rare fusion variants.
肺癌是一种常见的恶性肿瘤，间变性淋巴瘤激酶（ALK）基因重排导致少数非小细胞肺癌（NSCLC）病例。携带ALK融合蛋白的NSCLC患者对ALK酪氨酸激酶抑制剂（TKIs）敏感。在本报告中，我们描述了一例转移性肺腺癌女性患者，通过二代测序（NGS）鉴定其携带罕见的反向SQSTM1-ALK（S5，A20）融合。该患者接受恩沙替尼作为一线治疗，产生了部分缓解（PR）。在发表时，患者病情仍然良好。我们首次在心包积液中鉴定出SQSTM1-ALK融合的存在，对恩沙替尼的良好反应证实了SQSTM1-ALK融合的致癌潜力。NGS的重大进展和广泛应用促进了罕见融合变异体的鉴定。
